| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v1.67 | COL11A1 | Zornitza Stark Marked gene: COL11A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.67 | COL11A1 | Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.54 | COL11A1 | Bryony Thompson Classified gene: COL11A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.54 | COL11A1 | Bryony Thompson Gene: col11a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.53 | COL11A1 |
Bryony Thompson gene: COL11A1 was added gene: COL11A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL11A1 were set to 8872475; 20301479 Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II MIM#604841 Review for gene: COL11A1 was set to GREEN gene: COL11A1 was marked as current diagnostic Added comment: Stickler syndrome is a multi-system connective tissue disorder. Monoallelic loss of function variants in COL11A1 are a well-established cause of Stickler syndrome. Sources: Literature |
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